Clefting
Gene: RAD21EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 14 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 9:26 a.m. | Last Modified: 11 Oct 2023, 9:26 a.m.
Panel Version: 4.100
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Arina Puzriakova (Genomics England Curator)
At least 33 unrelated families published with RAD21 alterations. Of these, 6 cases presented with cleft palate or submucous cleft palate. Although only displayed by a subset of patients, clefting is a congenital anomaly that may aid earlier diagnosis if other features such as ID have not yet become apparent. Therefore there would be value in including RAD21 on this panel with a Green rating.
Sources: LiteratureCreated: 15 Nov 2022, 12:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cornelia de Lange syndrome 4, OMIM:614701
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Cornelia de Lange syndrome 4, OMIM:614701
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Haematological malignancies cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Monogenic short stature
- Holoprosencephaly - NOT chromosomal
- Radial dysplasia
- Intellectual disability
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q4_22_promote_green was removed from gene: RAD21.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to RAD21. Source NHS GMS was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: rad21 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: RAD21 was added gene: RAD21 was added to Clefting. Sources: Literature Q4_22_promote_green tags were added to gene: RAD21. Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD21 were set to 22633399; 27882533; 31334757; 32193685 Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, OMIM:614701 Review for gene: RAD21 was set to GREEN